Gene Symbol: Cln5
Description: CLN5, intracellular trafficking protein
Alias: ceroid-lipofuscinosis neuronal protein 5, ceroid-lipofuscinosis, neuronal 5
Heinonen O, Salonen T, Jalanko A, Peltonen L, Copp A. CLN-1 and CLN-5, genes for infantile and variant late infantile neuronal ceroid lipofuscinoses, are expressed in the embryonic human brain. J Comp Neurol. 2000;426:406-12 pubmed
..These findings indicate that expression of CLN-1 and CLN-5 may be significant for development of a wide range of maturating neurons. ..
Isosomppi J, Vesa J, Jalanko A, Peltonen L. Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein. Hum Mol Genet. 2002;11:885-91 pubmed
..the biosynthesis and intracellular localization of this protein in transiently transfected BHK-21 cells using a CLN5-specific peptide antibody...
Kopra O, Vesa J, von Schantz C, Manninen T, Minye H, Fabritius A, et al
. A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging. Hum Mol Genet. 2004;13:2893-906 pubmed
..Here, we have developed a novel mouse model for the human vLINCL (CLN5) by targeted deletion of exon 3 of the mouse Cln5 gene...
Vesa J, Chin M, Oelgeschläger K, Isosomppi J, DellAngelica E, Jalanko A, et al
. Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3. Mol Biol Cell. 2002;13:2410-20 pubmed
..Herein, we report that three NCL disease forms with similar tissue pathology are connected at the molecular level: CLN5 polypeptides directly interact with the CLN2 and CLN3 proteins based on coimmunoprecipitation and in vitro binding ..
Holmberg V, Jalanko A, Isosomppi J, Fabritius A, Peltonen L, Kopra O. The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain. Neurobiol Dis. 2004;16:29-40 pubmed
..Finnish variant late infantile NCL (vLINCL(Fin)) is caused by mutations in the CLN5 gene...
Lyly A, von Schantz C, Heine C, Schmiedt M, Sipilä T, Jalanko A, et al
. Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins. BMC Cell Biol. 2009;10:83 pubmed publisher
..we have studied molecular interactions between NCL proteins, concentrating specifically on the interactions of CLN5, the protein underlying the Finnish variant late infantile form of NCL (vLINCLFin)...
Mamo A, Jules F, Dumaresq Doiron K, Costantino S, Lefrancois S. The role of ceroid lipofuscinosis neuronal protein 5 (CLN5) in endosomal sorting. Mol Cell Biol. 2012;32:1855-66 pubmed publisher
Mutations in the gene encoding CLN5 are the cause of Finnish variant late infantile Neuronal Ceroid Lipofuscinosis (NCL), and the gene encoding CLN5 is 1 of 10 genes (encoding CLN1 to CLN9 and cathepsin D) whose germ line mutations result ..
Holopainen J, Saarikoski J, Kinnunen P, Jarvela I. Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs). Eur J Biochem. 2001;268:5851-6 pubmed
..Using the novel spectrofluorometric assay introduced in this study provides a fast and repeatable technique to measure intralysosomal pH from cell suspensions. ..
Sleat D, Zheng H, Qian M, Lobel P. Identification of sites of mannose 6-phosphorylation on lysosomal proteins. Mol Cell Proteomics. 2006;5:686-701 pubmed